ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396044
Gene: RSPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408126
ClinVar RCV Id:
RCV000469271
RCV001333455
RCV002526411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_543136.1:p.Arg303Gly
CA10043694
NM_080860.4:c.907A>G